NM_000372.5(TYR):c.125A>G (p.Asp42Gly) AND Tyrosinase-negative oculocutaneous albinism

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 15, 1992
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000003992.2

Allele description

NM_000372.5(TYR):c.125A>G (p.Asp42Gly)

Gene:

TYR:tyrosinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q14.3

Genomic location:

Preferred name:

NM_000372.5(TYR):c.125A>G (p.Asp42Gly)

HGVS:

NC_000011.10:g.89178078A>G
NG_008748.1:g.5207A>G
NM_000372.5:c.125A>G
NP_000363.1:p.Asp42Gly
NC_000011.9:g.88911246A>G
NM_000372.4:c.125A>G
P14679:p.Asp42Gly

Protein change:

D42G; ASP42GLY

Links:

UniProtKB: P14679#VAR_007651; OMIM: 606933.0019; dbSNP: rs28940878

NCBI 1000 Genomes Browser:

rs28940878

Molecular consequence:

NM_000372.5:c.125A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Tyrosinase-negative oculocutaneous albinism (OCA1A)
Synonyms:: ALBINISM, OCULOCUTANEOUS, TYPE IB; Albinism, oculocutaneous, type IA; Oculocutaneous albinism type 1A
Identifiers:: MedGen: C4551504; Orphanet: 352731; Orphanet: 79431; OMIM: 203100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024158	OMIM	no assertion criteria provided	Pathogenic (Jul 15, 1992)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 1943686, 1642278

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000024158

OMIM

no assertion criteria provided

Pathogenic
(Jul 15, 1992)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.

King RA, Mentink MM, Oetting WS.

Mol Biol Med. 1991 Feb;8(1):19-29.

PubMed [citation]

PMID:: 1943686

Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.

Tripathi RK, Strunk KM, Giebel LB, Weleber RG, Spritz RA.

Am J Med Genet. 1992 Jul 15;43(5):865-71.

PubMed [citation]

PMID:: 1642278

Details of each submission

From OMIM, SCV000024158.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a patient with type IA OCA (203100), King et al. (1991) found a GAC-to-GGC change at codon 42 resulting in substitution of glycine for aspartic acid. See Tripathi et al. (1992) for the GAC(asp)-to-GGC(gly) mutation at codon 42.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 2, 2019

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